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PHOX2B Mutation-Confirmed Congenital Central Hypoventilation Syndrome in A Chinese Family: Presentations From Newborn to Adulthood

NCT ID: NCT00652964

Last Updated: 2012-11-08

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

UNKNOWN

Total Enrollment

20 participants

Study Classification

OBSERVATIONAL

Study Start Date

2009-09-30

Study Completion Date

2012-12-31

Brief Summary

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Detect the PHOX2B Mutation-confirmed congenital central hypoventilation syndrome

Detailed Description

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Background: Congenital central hypoventilation syndrome (CCHS) is characterized by compromised chemo-reflexes that results in hypoventilation during sleep. Recently, a heterozygous PHOX2B gene mutation was identified in CCHS. This report was made to increase physicians' awareness of this rare disease.

Methods: A Chinese family of CCHS with presentations from newborn to adulthood and genetic analysis confirming the PHOX2B mutation was analyzed. After identifying central hypoventilation in an adult male (index case), clinical evaluation was performed on the complete family, which consisted of the parents, five siblings, and five offsprings. In addition, pulmonary function test, overnight polysomnography, arterial blood gas, and hypercapnia ventilatory response, and genetic screening for PHOX2B gene mutations were performed on living family members.

Conditions

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Central Alveolar Hypoventilation Syndrome

Keywords

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sleep apnea, PHOX2B, hypoventilation, polysomnography

Study Design

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Observational Model Type

FAMILY_BASED

Study Time Perspective

CROSS_SECTIONAL

Study Groups

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Observation

a family of congenital central hypoventilation syndrome

CPAP

Intervention Type DEVICE

CPAP treatment for patients with congenital central hypoventilation syndrome

Interventions

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CPAP

CPAP treatment for patients with congenital central hypoventilation syndrome

Intervention Type DEVICE

Eligibility Criteria

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Inclusion Criteria

* Members of familiar congenital central hypoventilation syndrome

Exclusion Criteria

* Refuse to participate study
Eligible Sex

ALL

Accepts Healthy Volunteers

No

Sponsors

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National Taiwan University Hospital

OTHER

Sponsor Role lead

Responsible Party

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Responsibility Role SPONSOR

Principal Investigators

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Peilin Lee, M.D

Role: PRINCIPAL_INVESTIGATOR

National Taiwan University Hospital

Locations

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Naitonal Taiwan University Hospital

Taipei, , Taiwan

Site Status RECRUITING

Countries

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Taiwan

Central Contacts

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Peilin Lee, M.D.

Role: CONTACT

Phone: +886-2-23562905

Email: [email protected]

Facility Contacts

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Peilin Lee, M.D.

Role: primary

Other Identifiers

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200801064R

Identifier Type: -

Identifier Source: org_study_id